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Article

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

Journal of the National Cancer Institute - 8 Feb 2023

Lim Belle W X, Li Na, Mahale Sakshi, McInerny Simone, Zethoven Magnus, Rowley Simone M, Huynh Joanne, Wang Theresa, Lee Jue Er Amanda, Friedman Mia, Devereux Lisa, Scott Rodney J, Sloan Erica K, James Paul A, Campbell Ian G

Abstract excerpt

BACKGROUND: Breast cancers (BCs) that arise in individuals heterozygous for a germline pathogenic variant in a susceptibility gene, such as BRCA1 and BRCA2, PALB2, and RAD51C, have been shown to exhibit biallelic loss in the respective genes and be associated with triple-negative breast cancer (TNBC) and distinctive somatic mutational signatures. Tumor sequencing thus presents an orthogonal approach to assess the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36315097
DOI: 10.1093/jnci/djac196
PMCID: PMC9905963

Genes

BARD1
CHEK2
RAD51D
BLM
BRCA1
BRCA2
BRIP1
FANCM
PALB2
PARP2
RAD50
RAD51C

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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